S48G (p.Ser48Gly) variant of EPAS1 (Q99814)
S48G (p.Ser48Gly) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- gnomAD rs1296479562
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.81
- CADD 25.90
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available